Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

Pathogenic germline variants in the DNA polymerase genes POLE and POLD1 cause polymerase proofreading-associated polyposis, a dominantly inherited disorder with increased risk of colorectal carcinomas and other tumors. POLE/POLD1 variants may result in high somatic mutation and neoantigen loads that...

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Detalles Bibliográficos
Autores principales: Weber, Christine A. M., Krönke, Nicole, Volk, Valery, Auber, Bernd, Förster, Alisa, Trost, Detlef, Geffers, Robert, Esmaeilzadeh, Majid, Lalk, Michael, Nabavi, Arya, Samii, Amir, Krauss, Joachim K., Feuerhake, Friedrich, Hartmann, Christian, Wiese, Bettina, Brand, Frank, Weber, Ruthild G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664377/
https://www.ncbi.nlm.nih.gov/pubmed/37990341
http://dx.doi.org/10.1186/s40478-023-01689-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664377/
https://www.ncbi.nlm.nih.gov/pubmed/37990341
http://dx.doi.org/10.1186/s40478-023-01689-5

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